Incidental Mutation 'R5976:Ptp4a3'
ID 471798
Institutional Source Beutler Lab
Gene Symbol Ptp4a3
Ensembl Gene ENSMUSG00000059895
Gene Name protein tyrosine phosphatase 4a3
Synonyms Prl-3
MMRRC Submission 044158-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.121) question?
Stock # R5976 (G1)
Quality Score 218
Status Not validated
Chromosome 15
Chromosomal Location 73594991-73629075 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 73627885 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 94 (V94A)
Ref Sequence ENSEMBL: ENSMUSP00000131036 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053232] [ENSMUST00000163582] [ENSMUST00000165541] [ENSMUST00000167582] [ENSMUST00000230044] [ENSMUST00000230177] [ENSMUST00000230307] [ENSMUST00000231209]
AlphaFold Q9D658
Predicted Effect possibly damaging
Transcript: ENSMUST00000053232
AA Change: V113A

PolyPhen 2 Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000060956
Gene: ENSMUSG00000059895
AA Change: V113A

DomainStartEndE-ValueType
Pfam:DSPc 26 155 7.1e-10 PFAM
Pfam:Y_phosphatase 27 153 3.9e-11 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000163582
AA Change: V113A

PolyPhen 2 Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000131281
Gene: ENSMUSG00000059895
AA Change: V113A

DomainStartEndE-ValueType
Pfam:DSPc 26 155 7.1e-10 PFAM
Pfam:Y_phosphatase 27 153 3.9e-11 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000165541
AA Change: V113A

PolyPhen 2 Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000132097
Gene: ENSMUSG00000059895
AA Change: V113A

DomainStartEndE-ValueType
Pfam:Y_phosphatase 13 152 5.1e-9 PFAM
Pfam:DSPc 34 154 4.8e-9 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000167582
AA Change: V94A

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000131036
Gene: ENSMUSG00000059895
AA Change: V94A

DomainStartEndE-ValueType
Pfam:Y_phosphatase 5 134 7.8e-12 PFAM
Pfam:DSPc 5 136 1.8e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229339
Predicted Effect probably benign
Transcript: ENSMUST00000230044
Predicted Effect possibly damaging
Transcript: ENSMUST00000230177
AA Change: V113A

PolyPhen 2 Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230864
Predicted Effect probably benign
Transcript: ENSMUST00000230307
Predicted Effect probably benign
Transcript: ENSMUST00000231209
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the protein-tyrosine phosphatase family. Protein tyrosine phosphatases are cell signaling molecules that play regulatory roles in a variety of cellular processes. Studies of this class of protein tyrosine phosphatase in mice demonstrates that they are prenylated in vivo, suggesting their association with cell plasma membrane. The encoded protein may enhance cell proliferation, and overexpression of this gene has been implicated in tumor metastasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial preweaning lethality and decreased incidence of AOM-DDS induced tumors. Mice homozygous for a different targeted allele exhibit decreased circulating glucose levels in an intraperitoneal glucose tolerance test. [provided by MGI curators]
Allele List at MGI

All alleles(11) : Targeted(2) Gene trapped(9)
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankar T C 1: 72,682,450 (GRCm39) T1154A probably benign Het
Ankrd26 A T 6: 118,494,855 (GRCm39) probably null Het
Arih2 A T 9: 108,485,172 (GRCm39) *54R probably null Het
AW146154 T G 7: 41,129,721 (GRCm39) K465T probably damaging Het
Bend3 A G 10: 43,386,540 (GRCm39) Y311C probably benign Het
Bltp2 G A 11: 78,174,955 (GRCm39) A1697T probably benign Het
Ccdc110 A T 8: 46,396,536 (GRCm39) Y809F possibly damaging Het
Ccnh C T 13: 85,338,982 (GRCm39) P76L probably damaging Het
Chaf1a T A 17: 56,371,115 (GRCm39) C667S probably damaging Het
Clca3a1 A T 3: 144,452,636 (GRCm39) Y616N probably damaging Het
Cldn4 A G 5: 134,975,410 (GRCm39) C64R probably damaging Het
Crybg2 TGGAGGAGGAGGAGGAGGAG TGGAGGAGGAGGAGGAG 4: 133,801,837 (GRCm39) probably benign Het
Dclk2 C A 3: 86,694,532 (GRCm39) R752L possibly damaging Het
Dzank1 C A 2: 144,343,409 (GRCm39) G318W probably damaging Het
Edem1 T A 6: 108,819,923 (GRCm39) I236K probably damaging Het
Eif4e1b T C 13: 54,932,635 (GRCm39) F75L probably damaging Het
Elmo3 A G 8: 106,034,279 (GRCm39) Y266C probably damaging Het
Enpep A G 3: 129,092,773 (GRCm39) S509P probably damaging Het
Exoc8 A G 8: 125,623,392 (GRCm39) M325T probably benign Het
Fah A G 7: 84,243,949 (GRCm39) M270T probably benign Het
Gabbr1 T C 17: 37,378,754 (GRCm39) L532P probably damaging Het
Gm10770 T A 2: 150,021,320 (GRCm39) K66* probably null Het
Gprc5c A T 11: 114,755,313 (GRCm39) Q330L possibly damaging Het
Grin3a T A 4: 49,792,602 (GRCm39) H377L probably damaging Het
Hipk3 T C 2: 104,301,529 (GRCm39) E221G probably damaging Het
Hsd17b6 T A 10: 127,827,308 (GRCm39) M255L probably benign Het
Ighv1-7 T A 12: 114,502,379 (GRCm39) E29D probably benign Het
Ing3 T A 6: 21,971,173 (GRCm39) S326T probably benign Het
Ipo7 T C 7: 109,648,014 (GRCm39) L632P probably damaging Het
Kdm6b A G 11: 69,294,614 (GRCm39) probably null Het
Kif21a T G 15: 90,820,015 (GRCm39) D1583A probably damaging Het
Lama2 C T 10: 27,066,672 (GRCm39) V1070I probably benign Het
Lrp1 A T 10: 127,419,770 (GRCm39) S946R probably damaging Het
Lrrc37a A G 11: 103,389,897 (GRCm39) S1843P possibly damaging Het
Ltbp1 T C 17: 75,597,078 (GRCm39) Y517H probably damaging Het
Map2k4 T A 11: 65,600,778 (GRCm39) N51I probably benign Het
Mfsd2b G T 12: 4,916,522 (GRCm39) A216D probably damaging Het
Nbea T C 3: 55,761,268 (GRCm39) T2025A probably benign Het
Neb A G 2: 52,106,928 (GRCm39) V4162A possibly damaging Het
Nr3c1 A T 18: 39,554,602 (GRCm39) F599I probably damaging Het
Nsun2 T G 13: 69,771,271 (GRCm39) probably null Het
Or10ab4 T A 7: 107,655,005 (GRCm39) M272K possibly damaging Het
Or8b37 G T 9: 37,958,997 (GRCm39) V160F possibly damaging Het
Otoa T A 7: 120,726,936 (GRCm39) W524R probably benign Het
Paip1 T A 13: 119,593,533 (GRCm39) D182E probably damaging Het
Pde1a G A 2: 79,698,586 (GRCm39) Q415* probably null Het
Pfkfb2 T A 1: 130,635,816 (GRCm39) K72* probably null Het
Pigg A G 5: 108,480,057 (GRCm39) E444G probably null Het
Plec T C 15: 76,073,237 (GRCm39) Y669C probably damaging Het
Ptprg A G 14: 12,211,625 (GRCm38) E969G probably damaging Het
R3hcc1l T A 19: 42,551,789 (GRCm39) V262E probably benign Het
Ranbp3l T G 15: 9,030,916 (GRCm39) F65C possibly damaging Het
Rbm19 T A 5: 120,278,372 (GRCm39) S718R probably benign Het
Recql4 C A 15: 76,593,624 (GRCm39) R162L probably benign Het
Rest T C 5: 77,416,119 (GRCm39) L111P probably benign Het
Rgma T C 7: 73,059,216 (GRCm39) S13P probably damaging Het
Rogdi T A 16: 4,831,175 (GRCm39) I31F probably benign Het
Serpinb9e T A 13: 33,439,112 (GRCm39) D179E probably benign Het
Slc1a5 T C 7: 16,529,807 (GRCm39) C409R probably damaging Het
Slc25a38 A G 9: 119,945,613 (GRCm39) T38A probably damaging Het
Spag17 C T 3: 100,003,107 (GRCm39) Q1897* probably null Het
St7 C A 6: 17,694,221 (GRCm39) A4E possibly damaging Het
Tbcel T A 9: 42,350,499 (GRCm39) I263F possibly damaging Het
Tmtc3 A G 10: 100,312,534 (GRCm39) V103A probably benign Het
Tnc G A 4: 63,936,403 (GRCm39) P178S probably benign Het
Vwf A G 6: 125,580,426 (GRCm39) D558G Het
Zfp541 A G 7: 15,810,344 (GRCm39) K127R probably benign Het
Other mutations in Ptp4a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
P0005:Ptp4a3 UTSW 15 73,627,160 (GRCm39) missense possibly damaging 0.95
R2033:Ptp4a3 UTSW 15 73,625,618 (GRCm39) missense probably damaging 1.00
R2159:Ptp4a3 UTSW 15 73,623,865 (GRCm39) missense probably benign 0.00
R6874:Ptp4a3 UTSW 15 73,595,259 (GRCm39) unclassified probably benign
R7894:Ptp4a3 UTSW 15 73,628,756 (GRCm39) missense probably benign 0.02
R8168:Ptp4a3 UTSW 15 73,628,695 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATCCCCTCTGGTTGAATAGGAG -3'
(R):5'- CAGGAATGGCTACCGAAGTG -3'

Sequencing Primer
(F):5'- CCTCTGGTTGAATAGGAGGGACC -3'
(R):5'- TGGCTACCGAAGTGAGAAGTG -3'
Posted On 2017-03-31